1/97. Homozygotes for prothrombin gene 20210 A allele in a thrombophilic family without clinical manifestations of venous thromboembolism.BACKGROUND AND OBJECTIVE: A new genetic risk factor for venous thromboembolism has recently been described which involves a G to A transition at position 20210 in the 3' untranslated region of the prothrombin gene. To date, only a few homozygotes for this mutation have been reported and in most of cases, they suffered from thrombotic disease. Here, we describe a pedigree including both heterozygous and homozygous subjects for prothrombin (PT) 20210 A. DESIGN AND methods: This family was recruited in 1996 as part of our gait (Genetic Analysis of Idiopathic thrombophilia) project. To qualify for the gait study, a pedigree was required to have at least 10 living individuals in three or more generations (i.e. extended pedigree). The pedigrees were selected through probands with idiopathic thrombophilia. A complete set of plasma and dna determinations related to hemostasis was performed on this family. RESULTS: The plasma studies yielded normal results in all of the individuals. The family members who had a history of thromboembolism were heterozygous carriers of the PT 20210 A variant. In addition, 4 relatives who were heterozygous, and two who were homozygous for this A allele, failed to show clinical manifestations. These two homozygotes were 51 and 19 years old. INTERPRETATION AND CONCLUSIONS: This case exemplifies the complexity of thrombotic disease since individuals homozygous for a mutant gene do not exhibit symptoms while heterozygous individuals often do exhibit the disease. This case suggests that the new genetic risk factor for thrombosis (i.e. PT 20210 A) may not be as strong as most of the previously described genetic risk factors.- - - - - - - - - - ranking = 1keywords = venous thromboembolism, thromboembolism (Clic here for more details about this article) |
2/97. venous thromboembolism at a young age in a brother and sister with coinheritance of homozygous 20210A/A prothrombin mutation and heterozygous 1691G/A factor v Leiden mutation.We report on members of a Turkish thrombophilic family with coinheritance of the prothrombin mutation PT20210A and the factor v Leiden mutation. The 23-year-old propositus and his elder sister both had episodes of venous theomboembolism at a young age (23 years and 26 years, respectively) and are homozygous for the PT20210A mutation and heterozygous for the factor v Leiden mutation. The 51-year-old father is suffering from coronary heart disease and is heterozygous for both thrombophilic mutations. The asymptomatic 43-year-old mother is heterozygous for the PT20210A mutation, but without activated protein c resistance. Two other children, a 20-year-old girl who is homozygous for the PT20210A mutation and a 13-year-old boy who is heterozygous for the PT20210A mutation, are both free from activated protein c resistance and thrombosis. This report provides further evidence for an early onset of thromboembolic disorders in individuals with an homozygous state of the prothrombin variant 20210A/A and coinheritance of another thrombophilic mutation. consensus guidelines are required for the treatment and prophylaxis of patients and subjects who remain asymptomatic with homozygous or more than one heterozygous genetic defect associated with thrombophilia.- - - - - - - - - - ranking = 0.1159540002119keywords = thromboembolism (Clic here for more details about this article) |
3/97. Jugular vein thrombosis: a rare presentation of atypical chronic myeloproliferative disorder in a young woman.venous thromboembolism is common in subjects with chronic myeloproliferative disorders and is a recognized presenting feature of occult myeloproliferation. We report the case of a young woman who presented with acute thrombosis in the right jugular vein and pulmonary embolism. splenomegaly and myeloid proliferation with bone marrow fibrosis, in the absence of the criteria for typical myeloproliferative disorders, allowed a diagnosis of an atypical form of chronic myeloproliferative disorder. This form carries a high risk of thrombosis and venous thromboembolism can be the presenting feature, though the course is often indolent. Acute thrombosis in the right jugular vein has not been so far described in these subjects. The outcome of young people with myelofibrosis is unpredictable, but a normal level of hemoglobin and the absence of blast cells and constitutional symptoms at presentation identifies subjects with a low probability of rapid disease progression.- - - - - - - - - - ranking = 0.22319080004238keywords = venous thromboembolism, thromboembolism (Clic here for more details about this article) |
4/97. Use of the Amplatz thrombectomy device for severe deep venous thrombosis.venous thromboembolism is a significant cause of morbidity in the united states. thrombectomy devices are not currently the standard of treatment in deep venous thromboses. The Amplatz thrombectomy device is used for arterial occlusions and pulmonary emboli, but its regular use in venous thromboses has not been documented in the literature. We report a unique case of treatment of lower extremity deep venous thrombosis with the Amplatz thrombectomy device.- - - - - - - - - - ranking = 0.028988500052975keywords = thromboembolism (Clic here for more details about this article) |
5/97. venous thromboembolism, factor v Leiden, and methylenetetrahydrofolate reductase in a sickle cell anemia patient.Vaso-occlusive crisis is the most common cause of morbidity in patients with sickle cell anemia (SCA). central nervous system involvement that leads to hemiplegia is the most frequent neurological complication in those patients. Peripheral deep venous thromboembolism was not reported in SCA patients. activated protein c resistance is associated with an increased risk of thrombophilia. The authors report an SCA patient with recurrent cerebrovascular accident and deep venous thrombosis. activated protein c resistance due to factor v Leiden heterozygous and heterozygocity for the methylenetetrahydrofolate reductase were diagnosed and suspected to be the risk factors that contribute to the development of the deep vein thrombosis in this SCA patient.- - - - - - - - - - ranking = 0.31015630020131keywords = venous thromboembolism, thromboembolism (Clic here for more details about this article) |
6/97. pulmonary embolism in a 13-year-old boy.pulmonary embolism and thromboembolic disease are uncommon entities in the pediatric population. The importance of risk factor assessment is paramount to considering the diagnosis in children. Clinical presentations are similar to those in adults; however, children may present with minimal objective findings on preliminary ancillary testing that would make one consider pulmonary embolus as a diagnosis. This report involves a 13-year-old boy with a well-defined risk factor for thromboembolism who presented with a classic history and without hypoxemia.- - - - - - - - - - ranking = 0.028988500052975keywords = thromboembolism (Clic here for more details about this article) |
7/97. Management of heparin-associated thrombocytopenia in pregnancy with subcutaneous r-hirudin.heparin-induced thrombocytopenia type II is a serious, immune-mediated complication of heparin therapy. Due to its low cross-reactivity with heparin-associated antibodies (10-20%), danaparoid has successfully been administered in these patients. In recent studies, r-hirudin as a potent and specific thrombin inhibitor, was demonstrated to be a safe and effective anticoagulant. We report a pregnant woman with systemic lupus erythematosus and recurrent venous thromboembolism who suffered from heparin-induced thrombocytopenia type II while treated with dalteparin sodium. Positive cross-reactivities with danaparoid were found. Anticoagulation with 15 mg subcutaneous r-hirudin was performed twice daily from the 25th week of pregnancy until delivery. No thromboembolism or bleeding or fetal toxicity of r-hirudin was detected. Recombinant hirudin is a potent and specific thrombin inhibitor that can be used as a safe and effective anticoagulant in pregnancy.- - - - - - - - - - ranking = 0.22319080004238keywords = venous thromboembolism, thromboembolism (Clic here for more details about this article) |
8/97. Postoperative right atrial and pulmonary embolism after prolonged spinal surgery.Perioperative pulmonary thromboembolism can proceed rapidly with grave prognosis, in which immediate or accurate diagnosis and management is not easy. According to the literatures, patients receiving spinal surgery are at relatively lower risk of developing thromboembolism. We would like to present a case of postoperative pulmonary thromboembolism which developed after a prolonged lumbar spinal surgery. tachycardia and unstable hemodynamics were noted postoperatively. Pulmonary and right atrial thrombi were disclosed by transesophageal echocardiography. Although cardiotomy and thrombectomy were immediately performed, the patient finally died 3 days after the operation. The pathogenesis of venous thromboembolism (VTE) in the surgical patients, the risk factors which predispose a patient to VTE, diagnosis, and treatment as well as the prophylactic measures of VTE are herein reviewed and discussed.- - - - - - - - - - ranking = 0.28116780014833keywords = venous thromboembolism, thromboembolism (Clic here for more details about this article) |
9/97. Deep venous thrombosis and pulmonary thromboembolism associated with a huge uterine myoma--a case report.A 51-year-old woman with a large uterine myoma suffered from acute pulmonary thromboembolism. Venography revealed thrombosis in the right common iliac vein and almost complete obstruction of the left common iliac vein. The ascending lumbar vein showed collateral drainage. Treatment was initiated with continuous intravenous heparin sodium, and a Greenfield filter was inserted to prevent the extension of the pulmonary embolism during and after hysterectomy. After a total hysterectomy, venography revealed restoration of patency in the bilateral common iliac veins, and no flow was seen in the ascending lumbar vein. Thorough clinical examinations failed to identify any other prothrombotic conditions. These results suggest that a large uterine myoma compressed veins in the pelvis, and the resulting impaired blood flow caused deep venous thrombosis and pulmonary thromboembolism.- - - - - - - - - - ranking = 0.17393100031785keywords = thromboembolism (Clic here for more details about this article) |
10/97. Postpartum ovarian vein thrombosis.OBJECTIVE: Ovarian vein thrombosis (OVT) is known as a rare but serious postpartum complication. The condition is often clinically not distinguishable from endometritis, appendicitis or pyelonephritis. OVT may cause sepsis, septic pulmonary thromboembolism, and thrombosis of the inferior vena cava and the renal veins, and is potentially fatal. The objective of this study was to report the clinical findings and outcome of two patients with diagnosed ovarian vein thrombosis after delivery managed at this institution. METHOD: Two patients fit the study criteria of documented ovarian vein thrombosis after delivery. An imaging diagnosis (CT) of ovarian vein thrombosis was required for final study inclusion. RESULTS: We present two patients with ovarian vein thrombosis. The symptoms of one patient disappeared two days after beginning heparin and antibiotic therapy. The control-CT 93 days after the diagnosis of POVT showed unsuspected ovarian veins. The other patient suffered from POVT 13 days after spontaneous delivery. Because of lethal embolisms she died during the operation for embolectomy. CONCLUSION: On the basis of our series and other recent series, OVT may likely be more common than previously thought and may become clinically apparent only when complicated by infection, expansion of the thrombus or pulmonary embolism. POVT is a potentially fatal condition most commonly seen as a complication of pelvic surgery or inflammatory disease.- - - - - - - - - - ranking = 0.028988500052975keywords = thromboembolism (Clic here for more details about this article) |
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